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Summary

Isoform:
Position:
230
Ref:
D
Mutation:
V
PTM impact:
proximal
PTM affected:
5
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

[0.0077]

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 228S

Affected site:

Position: 228
Residue: S
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
230V SAVQFPESA[D/V]DTTAKQ 2
proximal
224E SAV[Q/E]QFPESADTTAKQ 4
distal
227Q SAVQFP[E/Q]ESADTTAKQ 1
proximal

PTM Site: 231T

Affected site:

Position: 231
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
230V QFPESA[D/V]DTTAKQSLG 1
proximal
237R QFPESADTTAKQS[L/R]LG 6
distal
227Q QFP[E/Q]ESADTTAKQSLG 4
distal

PTM Site: 232T

Affected site:

Position: 232
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
230V FPESA[D/V]DTTAKQSLGS 2
proximal
237R FPESADTTAKQS[L/R]LGS 5
distal
227Q FP[E/Q]ESADTTAKQSLGS 5
distal

PTM Site: 234K

Affected site:

Position: 234
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
230V ESA[D/V]DTTAKQSLGSHR 4
distal
237R ESADTTAKQS[L/R]LGSHR 3
distal

PTM Site: 236S

Affected site:

Position: 236
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
230V A[D/V]DTTAKQSLGSHRAL 6
distal
237R ADTTAKQS[L/R]LGSHRAL 1
proximal

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